L32S (p.Leu32Ser) variant of KCNQ5 (Q9NR82)
L32S (p.Leu32Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L32S (p.Leu32Ser) variant details
- p.Leu32Ser
- gnomAD rs2098915614
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.50
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available